Canonical Allele Identifier: CA1026100509
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049944107
gnomAD v4: 22-43929004-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929008del , CM000684.2:g.43929008del GRCh38
NC_000022.10:g.44324888del , CM000684.1:g.44324888del GRCh37
NC_000022.9:g.42656221del NCBI36
NG_008631.1:g.10270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+119del MANE Select ENSP00000216180.3:n.486+119del
ENST00000216180.7:c.486+119del ENSP00000216180.3:n.486+119del
ENST00000406117.6:c.*118+119del ENSP00000384668.2:n.*118+119del
ENST00000423180.2:c.474+119del ENSP00000397987.2:n.474+119del
ENST00000478713.1:n.520+119del
NM_025225.2:c.486+119del NP_079501.2:n.486+119del
NM_025225.3:c.486+119del MANE Select NP_079501.2:n.486+119del
Search 100 bp 5'
Search 100 bp 3'